Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | MYF5 | Achchuthan Shanmugasundram reviewed gene: MYF5: Rating: GREEN; Mode of pathogenicity: ; Publications: 29887215; Phenotypes: External Ophthalmoplegia, Rib, and Vertebral Anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | MYF5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MYF5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.38 | MYF5 | Rebecca Foulger reviewed gene: MYF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.37 | MYF5 |
Rebecca Foulger gene: MYF5 was added gene: MYF5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYF5 were set to 29887215 Phenotypes for gene: MYF5 were set to External Ophthalmoplegia Rib and Vertebral Anomalies |